Neurolipo fucsinosis

Son enfermedades autosómicas recesivas caracterizadas por cúmulos de pigmentos lipídicos, autofluorescentes e insolubles, en los lisosomas de las células ganglionares.

Se diferencian las siguientes formas:

  • Infantil
  • Infantil tardía
  • Juvenil
  • Adulta
  • Atípica

Las tres primeras formas asocian distrofia retiniana severa con grave deterioro neurológico. Las formas adulta y atípica y adulta conservan una visión normal.

  1. Infantil.
    Aparecen retrasos del desarrollo mental hacia los 12-18 meses de vida y complicaciones visuales en algunos casos, a partir de los 12 meses pero siempre alrededor de los 18 meses. A los 2 años o 2 años y medio, ninguno puede percibir ya la luz, no hay reacciones pupilares y los movimientos del ojo carecen de coordinación. A los 3 años, estos niños carecen de coordinación y mueren a la edad media de 6 años y medio.
    El fondo de ojo puede ser normal y la distrofia retiniana sólo se diagnostica tras la realización del ERG.
  2. Infantil tardía.
    El desarrollo psicomotor del niño es normal hasta los 2-4 años de edad; después aparece la ataxia, se interrumpe el desarrollo, se manifiestan problemas de conducta y, concomitantemente, se sufre p&ecute;rdida de la visión. La enfermedad pregresa hasta la muerte del paciente, entre 1 y 4 años después del iniocio de la sintomatología.
    Los hallazgos oculares incluyen atrofia óptica y/o grupos de pigmento intraretiniano.
  3. Juvenil.
    La pérdida de visión se presenta hacia los 3 años y medio, 7 años de edad, progresando rápidamente antes de que aparezcan los Síntomas neurológicos o la demencia.
    La pérdida de visión central precede a la deficiencia de adaptación a la oscuridad y a la pérdida del campo visual. La mayoría de los pacientes muere antes de los 20 años de edad por complicaciones neurológicas. La hiperpigmentación se limita a la mácul o se extiende por toda la periferia.

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